Mutagenetix > Incidental Mutations

Incidental Mutation 'R5190:Ulk2'

398064

Institutional Source

Beutler Lab

Gene Symbol

Ulk2

Ensembl Gene

ENSMUSG00000004798

Gene Name

unc-51 like kinase 2

Synonyms

Unc51.2, A830085I22Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61775649-61855073 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61781711 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 934 (T934A)

Ref Sequence

ENSEMBL: ENSMUSP00000004920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004920]

Predicted Effect

probably benign
Transcript: ENSMUST00000004920
AA Change: T934A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: T934A

Domain	Start	End	E-Value	Type
S_TKc	9	271	1.1e-93	SMART
low complexity region	274	309	N/A	INTRINSIC
Blast:S_TKc	310	413	9e-28	BLAST
Blast:S_TKc	433	738	1e-29	BLAST
low complexity region	751	766	N/A	INTRINSIC
low complexity region	771	791	N/A	INTRINSIC
Pfam:DUF3543	821	1032	1.8e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129025

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased anxiety-like response in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca7	T	C	10: 79,999,593		probably null	Het
Abca8a	C	T	11: 110,089,909		probably null	Het
Ablim3	A	G	18: 61,819,911	Y361H	probably benign	Het
Acan	C	T	7: 79,098,541	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,989,716	C58F	probably damaging	Het
Cand2	G	T	6: 115,789,513	A360S	probably damaging	Het
Cdh2	A	G	18: 16,650,315	V62A	possibly damaging	Het
Cep44	C	T	8: 56,532,796	V354I	probably benign	Het
Col3a1	G	A	1: 45,329,084	R309Q	unknown	Het
Col3a1	G	A	1: 45,344,807		probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crtac1	A	G	19: 42,333,908	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,174,525	V1706A	probably benign	Het
Dopey1	A	G	9: 86,487,304	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,472,715	D214G	probably benign	Het
Fam216a	T	A	5: 122,367,521		probably null	Het
Fdxacb1	A	C	9: 50,772,087	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
Helz2	A	T	2: 181,230,757		probably null	Het
Itgam	T	C	7: 128,116,317		probably null	Het
Kcnh1	A	G	1: 192,505,528	S766G	probably benign	Het
Klra1	C	A	6: 130,375,278	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,597,982	T25S	probably benign	Het
Mapk6	T	C	9: 75,388,344	Y624C	probably damaging	Het
Olfr1123	A	G	2: 87,418,843	Y263C	probably damaging	Het
Olfr1158	T	A	2: 87,990,763	Y217*	probably null	Het
Olfr1393	T	C	11: 49,280,382	V78A	probably damaging	Het
Olfr51	T	G	11: 51,007,554	I194S	probably damaging	Het
Olfr677	C	T	7: 105,056,453	S69L	probably damaging	Het
P3h2	A	G	16: 25,984,949	S356P	possibly damaging	Het
Pde12	C	T	14: 26,666,377		probably null	Het
Rln3	T	G	8: 84,043,237	K94N	probably damaging	Het
Skint5	T	C	4: 113,763,514	I668V	unknown	Het
Slitrk5	C	A	14: 111,679,420	Q159K	probably damaging	Het
Trim3	G	T	7: 105,619,509	N79K	probably damaging	Het
Tyw1	T	A	5: 130,267,915	C101*	probably null	Het
Unc5b	T	C	10: 60,772,293	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,278,386	R9*	probably null	Het
Zfc3h1	T	G	10: 115,418,692	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,577,407	V9A	probably benign	Het
Zfp423	T	A	8: 87,782,463	S397C	probably damaging	Het

Other mutations in Ulk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Ulk2	APN	11	61791436	nonsense	probably null
IGL02044:Ulk2	APN	11	61781639	missense	probably damaging	1.00
IGL02185:Ulk2	APN	11	61782060	missense	probably damaging	1.00
IGL03036:Ulk2	APN	11	61834834	missense	probably damaging	1.00
BB007:Ulk2	UTSW	11	61791432	critical splice donor site	probably null
BB009:Ulk2	UTSW	11	61808090	missense	probably benign
BB017:Ulk2	UTSW	11	61791432	critical splice donor site	probably null
BB019:Ulk2	UTSW	11	61808090	missense	probably benign
R0207:Ulk2	UTSW	11	61777785	missense	probably benign	0.42
R0362:Ulk2	UTSW	11	61787586	missense	probably benign
R0657:Ulk2	UTSW	11	61808054	splice site	probably benign
R1076:Ulk2	UTSW	11	61819309	missense	probably damaging	1.00
R1144:Ulk2	UTSW	11	61800060	missense	possibly damaging	0.80
R1573:Ulk2	UTSW	11	61779755	missense	probably damaging	1.00
R1583:Ulk2	UTSW	11	61783545	missense	possibly damaging	0.95
R1619:Ulk2	UTSW	11	61781746	missense	probably damaging	1.00
R1757:Ulk2	UTSW	11	61841339	splice site	probably benign
R1845:Ulk2	UTSW	11	61812738	missense	probably benign	0.04
R1883:Ulk2	UTSW	11	61830612	missense	probably damaging	1.00
R1966:Ulk2	UTSW	11	61819471	splice site	probably null
R2177:Ulk2	UTSW	11	61791509	missense	probably benign	0.01
R2416:Ulk2	UTSW	11	61782039	missense	probably damaging	1.00
R2509:Ulk2	UTSW	11	61787514	missense	probably benign	0.00
R2847:Ulk2	UTSW	11	61824729	critical splice acceptor site	probably null
R4736:Ulk2	UTSW	11	61833435	missense	probably damaging	1.00
R4997:Ulk2	UTSW	11	61799156	missense	probably benign	0.00
R5081:Ulk2	UTSW	11	61803662	missense	probably damaging	1.00
R5346:Ulk2	UTSW	11	61834914	missense	probably damaging	1.00
R5348:Ulk2	UTSW	11	61783613	missense	probably benign
R5520:Ulk2	UTSW	11	61808144	missense	probably damaging	1.00
R5954:Ulk2	UTSW	11	61803796	splice site	probably benign
R6153:Ulk2	UTSW	11	61781746	missense	probably damaging	1.00
R6223:Ulk2	UTSW	11	61787504	nonsense	probably null
R7204:Ulk2	UTSW	11	61783631	missense	probably benign	0.11
R7205:Ulk2	UTSW	11	61834831	missense	possibly damaging	0.84
R7259:Ulk2	UTSW	11	61782083	missense	probably damaging	1.00
R7353:Ulk2	UTSW	11	61819348	missense	probably damaging	1.00
R7734:Ulk2	UTSW	11	61853301	nonsense	probably null
R7797:Ulk2	UTSW	11	61782102	missense	probably benign	0.06
R7808:Ulk2	UTSW	11	61854552	missense	probably damaging	1.00
R7930:Ulk2	UTSW	11	61791432	critical splice donor site	probably null
R7932:Ulk2	UTSW	11	61808090	missense	probably benign
X0028:Ulk2	UTSW	11	61799568	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTGTTCAATTTAAAGACACCCAG -3'
(R):5'- TCAGGAGTGCTGGATCTGTC -3'

Sequencing Primer
(F):5'- TTTAAAGACACCCAGAGAGAAGTAC -3'
(R):5'- TTTCAGTACTGAGAGATCACAGAACC -3'

Posted On

2016-07-06